中国汉族、藏族、日本群体Y染色体STR单倍型遗传多态性研究
发布时间：2018-10-31 10:51
【摘要】： 前言 Y染色体为男性特有，遵循父系伴性遗传规律。Y染色体非重组区(NRY)的DNA序列在细胞有丝分裂过程中不发生交换重组，以单倍体的形式毫无差异地从父亲遗传给儿子(突变除外)。这些特点使得Y染色体NRY区多态性遗传标记的DNA分析在许多领域具有不可替代的重要作用。在法医学领域，应用于性犯罪混合斑(精液与阴道液等)的男性个人识别案例中，不受女性DNA干扰而能明确检测出男性遗传标记型别；应用于亲子鉴定案例中，进行Y染色体DNA分析时，若母方遗传信息不能获得，不会影响结果，因为儿子的Y染色体NRY区序列只来自于父亲，即使假设父信息不能获得，与假设父有男系血缘关系的男性理论上具有与其相同的Y染色体，所以假设父的兄弟、叔、侄等均可替代假设父进行亲子鉴定。 短串联重复(STR)是Y染色体NRY区的多态性遗传标记的一种，又称微卫星。与其他遗传标记相比，Y-STR具有许多优点，正成为Y染色体遗传标记中法医学应用和研究的热点。由于Y染色体呈单倍体遗传，导致Y染色体遗传标记在不同人群中的分布极不平衡，群体差异比常染色体STR位点更加显著，在法医学应用的前提条件是：建立含有多个Y-STR位点的单倍型的群体分布数据库。所以，目前的法医学研究的首要任务是，利用已发现的Y染色体STR位点，取其中多态性较高的位点组成单倍型系统，并对尽可能局域化的人群进行检测，建立单倍型的群体分布数据库。本研究选择中国汉族、藏族和日本人群三个群体，检测了7个Y-STR位点，DYS393、DYS389Ⅰ、DYS19、DYS390、DYS389Ⅱ、DYS392和DYS385，并构建含有不同数目Y-STR位点的单倍型 系统，获得其群体分布数据，同时对其法医学意义及应用进行研 究。 材料与方法 应用聚合酶链式反应uCR入扩增七个Y染色体STR位点， DYS393、DYS389、DYS19、DYS390、DYS389 fi、DYS392 和 DYS3 85，通过聚丙烯酚胺凝胶电泳分离巩R产物，结合银染显 谱，对45例中国汉族为7例藏族59例日本人群无亲缘关系健康 男性个体进行Y－STR位点多态性分析。待测样品与经测序的等 位基因标准品梯阶（ndder）同步电泳对比分型并命名。同一样品 的各Y－STR位点型别联合，构建Y－STR单倍型。统计分析各 Y－STR位点及单倍型的群体分布特征，获得其频率的群体分布 数据，并讨论其法医学意义。将本研究的成果具体应用到性犯罪 混合斑鉴定和缺席亲子鉴定案例中。 结 果 一、Y—STR位点等位基因命名与分型 经测序的等位基因作为标准品，将其PCR产物混合制成等位 基因梯阶（ndder八按照国际法医学会DNA委员会推荐的原则， 根据测序结果确定重复单位数目，命名相应Y—STR位点的等位 基因。待测样品和Ladder同步加样进行聚丙烯醚胺凝胶电泳，谱 带相互比较进行待测样品的分型和命名，各Y—STR位点的等位 基因标准品测序结果参见图1－1－1－7。各Y—STR位点检测到 的等位基因与该位点的等位基因梯阶（Ladder）同步电泳的结果参 见图 2—1－2—6。 二JY—STR位点的等位基因（或等位基因组）在汉、藏、日三 个群体中的分布 1．DYS393 ·2· 在三个群体中共检出6个等位基因，汉族检出5个等位基因， DP值为 0．6980；藏族检出 2个等位基因，DP值为 0．5075；日本人 群检出 5个等位基因，DP值为 0．5406。 2．DYS389 在三个群体中共检出3个等位基因。汉族检出3个等位基 因，DP值为 0．6424；藏族检出 3个等位基因，DP值为 0．6694；日 本人群检出 3个等位基因，DP值为 0．5932。 3．DYS19 在三个群体中共检出6个等位基因，汉族检出5个等位基因， DP值为0．5525；藏族检出 5个等位基因，DP值为 0。6495；日本人 群检出6个等位基因，DP值为0．7165。 4．DYS390 在三个群体中共检出7个等位基因，汉族检出4个等位基因， DP值为 0．6061；藏族检出 6个等位基因，DP值为 0．7006；日本人 群检出 7个等位基因，DP值为 0．748。 5．DYS389D 在三个群体中共检出6个等位基因，汉族检出5个等位基因，， DP值为0．7495；藏族检出3个等位基因，DP值为0。5224；日本人 群检出6个等位基因，DP值为0．7884。 6．DYS392 在三个群体中共检出7个等位基因，汉族检出4个等位基因， DP值为0．7152；藏族检出6个等位基因，DP值为0．7454；日本人 群检出5个等位基因，DP值为O．6324。 7．DYS385 在三个群体中共检出13个等位基因，47个等位基因组，汉族 检出20个等位基因组pP值为0．9525；藏族检出22个等位基因 组，DP值为0．8991；日本人群检出31个等位基因组刀P值为0． 9579。 ·3· 三JY－STR单倍型在汉、藏、日三群体中的分布 以三群体平均 DP值最低的 DYS393为基础，逐一累加 DP值 递增的Y－STR位点，从而构建六种含有不同数目Y－STR位点 的单倍型系统：Yhl，YhZ，Yh3，Yh4，Yhs，Yh6。 1．
[Abstract]:Foreword Y chromosome is peculiar to men, and The DNA sequence of the non-recombinant region (NRY) of Y chromosome does not exchange recombination in the mitosis of cells, and is inherited from the father in the form of haploid without any difference. To give a son (other than mutation). These characteristics make the DNA analysis of the genetic marker of the Y chromosome NRY region in many fields An irreplaceable important role. In the field of forensic science, in male personal identification cases applied to sexual offences mixed spots (semen and vaginal fluids, etc.), male genetic markers can be clearly detected without the interference of female DNA; in paternity test cases, Y In the case of chromosomal DNA analysis, if the parent gene cannot be obtained, the result will not be affected, since the Y chromosome NRY region sequence of the son is derived only from the father, and even if the parent information cannot be obtained, the same Y chromosome is the same as that of the male parent who assumes that the parent has a male parent. Therefore, it is assumed that the father's brother, uncle, sister, etc. can be substituted The parent is assumed to be paternity testing. Short tandem repeat (STR) is the Y chromosome NR Y-STR has many advantages over other genetic markers and is becoming Y. Due to the haploid inheritance of Y chromosome, the distribution of Y chromosome genetic markers in different populations is unbalanced, and the population difference is more pronounced than that of autosomal STR loci. Therefore, the most important task of forensic research is to take advantage of the found Y chromosome STR loci to make a single-fold system with high polymorphic sites and to localize the population as localized as possible. The population distribution database of Chinese Han, Tibetan and Japanese was selected. Seven Y-STR loci, DYS393, DYS389 鈪
本文编号：2301906
[Abstract]:Foreword Y chromosome is peculiar to men, and The DNA sequence of the non-recombinant region (NRY) of Y chromosome does not exchange recombination in the mitosis of cells, and is inherited from the father in the form of haploid without any difference. To give a son (other than mutation). These characteristics make the DNA analysis of the genetic marker of the Y chromosome NRY region in many fields An irreplaceable important role. In the field of forensic science, in male personal identification cases applied to sexual offences mixed spots (semen and vaginal fluids, etc.), male genetic markers can be clearly detected without the interference of female DNA; in paternity test cases, Y In the case of chromosomal DNA analysis, if the parent gene cannot be obtained, the result will not be affected, since the Y chromosome NRY region sequence of the son is derived only from the father, and even if the parent information cannot be obtained, the same Y chromosome is the same as that of the male parent who assumes that the parent has a male parent. Therefore, it is assumed that the father's brother, uncle, sister, etc. can be substituted The parent is assumed to be paternity testing. Short tandem repeat (STR) is the Y chromosome NR Y-STR has many advantages over other genetic markers and is becoming Y. Due to the haploid inheritance of Y chromosome, the distribution of Y chromosome genetic markers in different populations is unbalanced, and the population difference is more pronounced than that of autosomal STR loci. Therefore, the most important task of forensic research is to take advantage of the found Y chromosome STR loci to make a single-fold system with high polymorphic sites and to localize the population as localized as possible. The population distribution database of Chinese Han, Tibetan and Japanese was selected. Seven Y-STR loci, DYS393, DYS389 鈪
本文编号：2301906
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